MC1R (melanocortin 1 receptor)

2003-02-01  

Identity

HGNC
LOCATION
16q24.3
LOCUSID
ALIAS
CMM5,MSH-R,SHEP2
FUSION GENES

Other Information

Locus ID:

NCBI: 4157
MIM: 155555
HGNC: 6929
Ensembl: ENSG00000258839

Variants:

dbSNP: 4157
ClinVar: 4157
TCGA: ENSG00000258839
COSMIC: MC1R

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000258839ENST00000555147Q01726
ENSG00000258839ENST00000555147Q1JUL4
ENSG00000258839ENST00000555427G3V4F0
ENSG00000258839ENST00000639847Q01726
ENSG00000258839ENST00000639847Q1JUL4

Expression (GTEx)

0
10
20
30
40
50
60

Pathways

PathwaySourceExternal ID
Neuroactive ligand-receptor interactionKEGGko04080
MelanogenesisKEGGko04916
Neuroactive ligand-receptor interactionKEGGhsa04080
MelanogenesisKEGGhsa04916
Signal TransductionREACTOMER-HSA-162582
Signaling by GPCRREACTOMER-HSA-372790
GPCR ligand bindingREACTOMER-HSA-500792
Class A/1 (Rhodopsin-like receptors)REACTOMER-HSA-373076
Peptide ligand-binding receptorsREACTOMER-HSA-375276
GPCR downstream signalingREACTOMER-HSA-388396
G alpha (s) signalling eventsREACTOMER-HSA-418555

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA447321Depressive Disorder, MajorDiseaseClinicalAnnotationassociatedPD21052032
PA449233desipramineChemicalClinicalAnnotationassociatedPD21052032

References

Pubmed IDYearTitleCitations
128175912003Control of confounding of genetic associations in stratified populations.228
179520752007Genetic determinants of hair, eye and skin pigmentation in Europeans.224
195783642009Genome-wide association study identifies three loci associated with melanoma risk.185
184835562008A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation.168
205856272010Web-based, participant-driven studies yield novel genetic associations for common traits.155
125794162003Skin pigmentation, biogeographical ancestry and admixture mapping.141
126638582003The melanocortin-1 receptor gene mediates female-specific mechanisms of analgesia in mice and humans.112
210977762011Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair.111
115113072001Melanocortin 1 receptor (MC1R) gene variants are associated with an increased risk for cutaneous melanoma which is largely independent of skin type and hair color.101
168094872006MC1R germline variants confer risk for BRAF-mutant melanoma.93

Citation

Dessen P

MC1R (melanocortin 1 receptor)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/191/mc1r